Diagnosis and treatment of Wilson's disease.

The biochemical diagnosis of Wilson's disease in Iran

Diagnosis of Wilson's disease: an experience over three decades.

BACKGROUND Wilson's disease is a rare but treatable condition that often presents diagnostic dilemmas. These dilemmas have for the most part not been resolved by the identification and cloning of the Wilson's disease gene. AIMS To report our experience over three decades with patients with Wilson's disease in order to illustrate the diverse patterns of presentation and thereby broaden the app...

Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

Copper is an essential trace element required by all living organisms. Excess amounts of copper, however, results in cellular damage. Disruptions to normal copper homeostasis are hallmarks of three genetic disorders: Menkes disease, occipital horn syndrome, and Wilson's disease. Menkes disease and occipital horn syndrome are characterized by copper deficiency. Typical features of Menkes disease...

Novel mutations in ATP7B gene of Wilson\'s disease in Iranian patients

Bacground: Wilson's disease is a rare autosomal recessive disorder characterized by toxic accumulation of copper in liver and brain. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. Characterization of the spectrum of mutations in this gene is important both for diagnosis and genetic counseling of the families. Materials and Methods: We enrol...

Hypoparathyroidism as a rare manifestation of Wilson,s disease: a case report

A 13 years old girl was admitted to the pediatric ward of hospital  No 1 of Kerman university of medical sciences because of crampy pains, pins and needles sensation of the extremities and history of an episode of seizure. Her problem started one week prior to admission with pain in the leg muscles, flexion of the fingers followed by seizure. On physical examination, the prominent finding inclu...

Wilson's disease presenting as rapid eye movement sleep behavior disorder: a possible window to early treatment.

OBJECTIVE To describe characteristics of REM sleep behavior disorder in Wilson's disease. METHOD Questionnaire-based interviews (patients and relatives), neurological examinations, two-week prospective dream-diary, video-polysomnography, transcranial sonography, MRI. RESULTS Four Wilson's disease cases with REM sleep behavior disorder were described; three had REM sleep behavior disorder as...